[en] We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed.
Research Center/Unit :
Breakthrough Breast Cancer Research Centre
Disciplines :
Genetics & genetic processes
Author, co-author :
Fasquelle, Corinne ✱; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Sartelet, Arnaud ✱; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Li, Wanbo; Key Laboratory for Animal Biotechnology of Jiangxi Province and the Ministry of Agriculture of China
Dive, Marc
Tamma, Nico ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Michaux, Charles ; Université de Liège - ULiège > Département de productions animales > Biostatistique, économie, sélection animale
Druet, Tom ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Huijbers, Ivo J; The Institute of Cancer Research, London > Breakthrough Breast Cancer Research Centre
Isacke, Clare M; The Institute of Cancer Research, London > Breakthrough Breast Cancer Research Centre
Coppieters, Wouter ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Georges, Michel ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Charlier, Carole ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
✱ These authors have contributed equally to this work.
Language :
English
Title :
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
Publication date :
2009
Journal title :
PLoS Genetics
ISSN :
1553-7390
eISSN :
1553-7404
Publisher :
Public Library of Science, San Francisco, United States - California
DGA - Région wallonne. Direction générale de l'Agriculture BELSPO - SPP Politique scientifique - Service Public Fédéral de Programmation Politique scientifique ULiège - Université de Liège F.R.S.-FNRS - Fonds de la Recherche Scientifique
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